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NIH study seeks genetic links to answer the 'Why?' of unexplained disorders

Even in the absence of a ready solution, knowing why a child faces physical, emotional and intellectual challenges is helpful to physicians and families. Researchers at the HudsonAlpha Institute for Biotechnology are using high throughput genomic sequencing to meet major diagnostic needs for childhood genetic disorders through a multi-year grant potentially totaling more than $7.6 million from the National Institutes of Health.

24 Jul 2013

Digital versions of standard molecular biology tool to detect common tumor-associated mutation in CSF

Massachusetts General Hospital (MGH) researchers and their colleagues have used digital versions of a standard molecular biology tool to detect a common tumor-associated mutation in the cerebrospinal fluid (CSF) of patients with brain tumors. In their report being published in the open-access journal Molecular Therapy - Nucleic Acids, the investigators describe using advanced forms of the gene-amplification technology polymerase chain reaction (PCR) to analyze bits of RNA carried in membrane-covered sacs called extracellular vesicles for the presence of a tumor-associated mutation in a gene called IDH1.

24 Jul 2013

p53 and cancer research: an interview with Professor Sir David Lane, Scientific Director of the Ludwig Institute for Cancer Research

P53 is a tumor suppressor gene. The gene encodes for a protein that monitors the state of the cell. If something goes wrong, it stops the cell from dividing or causes the cell to commit suicide. I call it the “guardian of the genome” as it is the molecule that seems to keep cells normal. It is one of our big defenses against cancer.

22 Jul 2013

Implications for treating some common food allergies

Food is an integral part of life; but, for some, it can be harmful. Allergic inflammation caused by inappropriate immune responses to some types of food has become a major public health issue. Over the past ten years, the prevalence of food allergies has increased by nearly 20 percent, affecting an estimated six million people in the U.S.

22 Jul 2013

Weeds derived from crop plant pose special challenges for modern farming

The evolutionary biologist Stephen Jay Gould once asked whether the living world would be different "if the tape were played twice." If there were a duplicate Earth evolving quietly beside ours, would we observe the emergence of creatures like ourselves and of plants and anaimals familiar to us, or would the cast of characters be entirely different?

22 Jul 2013

New research project has potential to treat human deafness and loss of balance

The sounds of success are ringing at Kansas State University through a research project that has potential to treat human deafness and loss of balance.

20 Jul 2013

Structural properties have changed across bacterial families without putting limits on antibiotic resistance

Antibiotic-resistant bacteria have been emerging at an alarming rate. In some of the scariest of these pathogens, the mechanism responsible for the bacteria's ability to defeat antibiotics is a complex protein molecule embedded in the bacterial cell wall -- the enzyme β-lactamase.

20 Jul 2013

Investigators report complete catalog of genes expressed in retina

Investigators at Massachusetts Eye and Ear and Harvard Medical School have published the most thorough description of gene expression in the human retina reported to date. In a study published today in the journal BMC Genomics, Drs. Michael Farkas, Eric Pierce and colleagues in the Ocular Genomics Institute at Mass. Eye and Ear reported a complete catalog of the genes expressed in the retina.

20 Jul 2013

NKX2-8 mutation in dogs may be a risk factor for human neural tube defects, say researchers

A gene related to neural tube defects in dogs has for the first time been identified by researchers at the University of California, Davis, and University of Iowa.

20 Jul 2013

Researchers identify mechanism behind pediatric solid tumors

Most of the time, it takes decades of accumulating genetic errors for a tumor to develop. While this explains the general occurrence of cancer in adults, it leaves a gap in understanding of the cause of pediatric tumors.

20 Jul 2013

Researchers demonstrate that 2-drug combination can eliminate cancer

New research conducted by Harvard scientists is laying out a roadmap to one of the holy grails of modern medicine - a cure for cancer.

20 Jul 2013

UCSF researchers find a way to knock down cancers caused by tumor-driving protein

UC San Francisco researchers have found a way to knock down cancers caused by a tumor-driving protein called -myc,- paving the way for patients with myc-driven cancers to enroll in clinical trials for experimental treatments.

20 Jul 2013

Scientists take important step toward pharmacologic development of treatment for fatal brain disorders

A team of researchers from Case Western Reserve University School of Medicine have identified a mechanism that can prevent the normal prion protein from changing its molecular shape into the abnormal form responsible for neurodegenerative diseases. This finding, published in the July 18 issue of Cell Reports, offers new hope in the battle against a foe that until now has always proved fatal.

19 Jul 2013

NCI awards $1.5M grant to LSUHSC researcher to study role of chronic inflammation in cancer

Yan Cui, PhD, Associate Professor of Microbiology, Immunology, & Parasitology at LSU Health Sciences Center New Orleans and the LSUHSC Stanley S. Scott Cancer Center, has been awarded a $1.5 million grant over five years by the National Cancer Institute to study the role of chronic inflammation in the development and progression of cancer.

19 Jul 2013

UCSF researchers find way to knock down cancers caused by myc protein

UC San Francisco researchers have found a way to knock down cancers caused by a tumor-driving protein called "myc," paving the way for patients with myc-driven cancers to enroll in clinical trials for experimental treatments.

19 Jul 2013

Researchers identify cellular channels critical for hearing

Ending a 30-year search by scientists, researchers at Boston Children's Hospital have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, progressive hearing loss. Findings were published online July 18 by the journal Neuron.

19 Jul 2013

Researchers identify genetic cause of severe obesity

Researchers at Boston Children's Hospital have identified a genetic cause of severe obesity that, though rare, raises new questions about weight gain and energy use in the general obese population. The research, published in the journal Science on July 19, involved genetic surveys of several groups of obese humans and experiments in mice.

19 Jul 2013

Kolltan signs research agreement with CHOP for novel therapeutic approaches for neuroblastoma

Kolltan Pharmaceuticals, Inc., a privately held biopharmaceutical company, today announced a license and research agreement with The Children's Hospital of Philadelphia to commence a collaboration with Yaël Mossé, M.D, an internationally recognized clinician and scientist for her work studying the causes and novel therapeutic approaches for the treatment of children diagnosed with neuroblastoma.

18 Jul 2013

CHOP-led research increases numbers of patients who could be treated with gene therapy

Gene therapy researchers have produced a bioengineered decoy that fools the immune system and prevents it from mistakenly defeating the benefits delivered by a corrective gene.

18 Jul 2013

TSRI scientists study 3-D structure of glucagon receptor for treatment of diabetes

The study is reported on July 17, 2013, in an advance online edition of the journal Nature, alongside a British laboratory's structural study of another member of the same class of receptors-known as "class B" G protein-coupled receptors (GPCRs).

18 Jul 2013

Mutation News and Research

NIH study seeks genetic links to answer the 'Why?' of unexplained disorders

Digital versions of standard molecular biology tool to detect common tumor-associated mutation in CSF

p53 and cancer research: an interview with Professor Sir David Lane, Scientific Director of the Ludwig Institute for Cancer Research

Implications for treating some common food allergies

Weeds derived from crop plant pose special challenges for modern farming

New research project has potential to treat human deafness and loss of balance

Structural properties have changed across bacterial families without putting limits on antibiotic resistance

Investigators report complete catalog of genes expressed in retina

NKX2-8 mutation in dogs may be a risk factor for human neural tube defects, say researchers

Researchers identify mechanism behind pediatric solid tumors

Researchers demonstrate that 2-drug combination can eliminate cancer

UCSF researchers find a way to knock down cancers caused by tumor-driving protein

Scientists take important step toward pharmacologic development of treatment for fatal brain disorders

NCI awards $1.5M grant to LSUHSC researcher to study role of chronic inflammation in cancer

UCSF researchers find way to knock down cancers caused by myc protein

Researchers identify cellular channels critical for hearing

Researchers identify genetic cause of severe obesity

Kolltan signs research agreement with CHOP for novel therapeutic approaches for neuroblastoma

CHOP-led research increases numbers of patients who could be treated with gene therapy

TSRI scientists study 3-D structure of glucagon receptor for treatment of diabetes

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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